Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

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Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

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Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

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Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

@en

Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

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Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

@en

Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

@nl

P1476

Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.

@en

P2093

Jianmin Tan

http://www.w3.org/2001/XMLSchema#string

Jiannan Ma

http://www.w3.org/2001/XMLSchema#string

Juan Wang

http://www.w3.org/2001/XMLSchema#string

Li Jiang

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Lingling Xie

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Xiujuan Li

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Yi Guo

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P2860

Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

Transport characteristics of folates in cerebrospinal fluid; a study utilizing doubly labeled 5-methyltetrahydrofolate and 5-formyltetrahydrofolate.

Hereditary folate malabsorption: family report and review of the literature.

The human proton-coupled folate transporter: Biology and therapeutic applications to cancer.

Physiology of folate and vitamin B12 in health and disease.

Hereditary folate malabsorption with extensive intracranial calcification.

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency

A review of folate receptor alpha cycling and 5-methyltetrahydrofolate accumulation with an emphasis on cell models in vitro.

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

P304

e8712

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scholarly article

case report

P356

10.1097/MD.0000000000008712

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P407

English

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P478

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2017-12-01T00:00:00Z

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29390264

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5815676

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